Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248918 | SCV000310292 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ce |
RCV000488209 | SCV000575485 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | COL12A1: BS2 |
Invitae | RCV001082633 | SCV000656213 | benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987739 | SCV001137179 | likely benign | Ullrich congenital muscular dystrophy 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000488209 | SCV001899412 | benign | not provided | 2020-09-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000248918 | SCV002069829 | likely benign | not specified | 2020-04-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519921 | SCV003683191 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.9083G>A (p.R3028H) alteration is located in exon 65 (coding exon 64) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 9083, causing the arginine (R) at amino acid position 3028 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Laboratory of Diagnostic Genome Analysis, |
RCV000488209 | SCV001799935 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000248918 | SCV001807280 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000488209 | SCV001919133 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000488209 | SCV001975919 | likely benign | not provided | no assertion criteria provided | clinical testing |